The natural history of hearing loss in pendred syndrome and non-syndromic enlarged vestibular aqueduct
K Mey, M Bille, SHR Rasmussen… - Otology & …, 2019 - journals.lww.com
… patients with enlarged vestibular aqueduct, hearing loss and SLC26A4 mutations yielded …
or prelingual inherited hearing loss, and probably is due to increased pressure within the …
or prelingual inherited hearing loss, and probably is due to increased pressure within the …
Genetic determinants of non-syndromic enlarged vestibular aqueduct: a review
… EVA may be associated to other cochleovestibular … as well as non-syndromic forms of
hearing loss. Genes that have been … of mutations in this gene cause non-syndromic autosomal …
hearing loss. Genes that have been … of mutations in this gene cause non-syndromic autosomal …
Enlarged vestibular aqueduct and Mondini Malformation: audiological, clinical, radiologic and genetic features
F Forli, F Lazzerini, G Auletta, L Bruschini… - European Archives of …, 2021 - Springer
… fluctuating hearing loss may constitute a sign of a NSEVA/PDS … mutations in determining
the phenotype of isolated EVA/PDS, … features of non-syndromic enlarged vestibular aqueduct (…
the phenotype of isolated EVA/PDS, … features of non-syndromic enlarged vestibular aqueduct (…
Non-syndromic enlarged vestibular aqueduct caused by novel compound mutations of the SLC26A4 gene: a case report and literature review
Y Huang, L Li, L Pan, X Ling, C Wang, C Huang… - Frontiers in …, 2023 - frontiersin.org
… non-syndromic and syndromic types. This study aimed to identify genetic defects in a Chinese
patient with non-syndromic enlarged vestibular aqueduct (… 2019 due to “hearing loss for 2 …
patient with non-syndromic enlarged vestibular aqueduct (… 2019 due to “hearing loss for 2 …
[HTML][HTML] Pendred syndrome/nonsyndromic enlarged vestibular aqueduct
RJH Smith, Y Iwasa, AM Schaefer - 2020 - europepmc.org
… hearing impairment also occurs), vestibular dysfunction, and temporal bone abnormalities
(bilateral enlarged vestibular aqueduct … vestibular aqueduct (PDS/NSEVA) caused by biallelic …
(bilateral enlarged vestibular aqueduct … vestibular aqueduct (PDS/NSEVA) caused by biallelic …
[HTML][HTML] Targeted next-generation sequencing facilitates genetic diagnosis and provides novel pathogenetic insights into deafness with enlarged vestibular aqueduct
YH Lin, CC Wu, YH Lin, YC Lu, CS Chen, TC Liu… - The Journal of Molecular …, 2019 - Elsevier
… -recessive disorders caused by mutations in SLC26A4. … hearing impairment (HHI) has
proven to be a powerful tool for identifying novel genes and mutations associated with deafness …
proven to be a powerful tool for identifying novel genes and mutations associated with deafness …
Clinical and genetic analysis of children with hearing loss and bilateral enlarged vestibular aqueducts
A Nakano, Y Arimoto, H Mutai, K Nara, S Inoue… - International Journal of …, 2022 - Elsevier
… is associated with Pendred syndrome [7] autosomal recessive non-syndromic hearing loss
(DFNB4) [8], caused by … As hearing loss caused by SLC26A4 mutation is usually progressive, …
(DFNB4) [8], caused by … As hearing loss caused by SLC26A4 mutation is usually progressive, …
Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant
JJ Smits, SE de Bruijn, CP Lanting, J Oostrik… - Human Genetics, 2022 - Springer
… SLC26A4 is the second most frequently mutated gene in arHL. … Defects in SLC26A4 are
among the most frequent causes (… either syndromic or non-syndromic SLC26A4-associated HL, …
among the most frequent causes (… either syndromic or non-syndromic SLC26A4-associated HL, …
Investigation of DFNB4 SLC26A4 mutation in patients with enlarged vestibular aquaduct
… Mutations in the SLC26A4 gene can cause syndromic (Pendred syndrome) or non-syndromic
hearing loss, both associated with inner ear … However, the mutation spectrum on the …
hearing loss, both associated with inner ear … However, the mutation spectrum on the …
CHD7 variants associated with hearing loss and enlargement of the vestibular aqueduct
… ear. These results suggest that some CHD7 variants can cause nonsyndromic hearing loss
… Chd7 expression and mutant phenotype data in mice suggest that CHD7 contributes to the …
… Chd7 expression and mutant phenotype data in mice suggest that CHD7 contributes to the …